Literature DB >> 17097859

Congenital muscular dystrophies: new aspects of an expanding group of disorders.

Matthew T Lisi1, Ronald D Cohn.   

Abstract

The congenital muscular dystrophies comprise a genetically and clinically heterogeneous group of disorders characterized by early onset of progressive muscle weakness and often involvement of other organ systems such as the brain and eyes. During the last decade, significant progress has been made to further characterize various forms of congenital muscular dystrophies based on their specific genetic and clinical appearance. This review represents an overview of the recent accomplishments as they relate to clinical, diagnostic, pathogenetic and therapeutic aspects of congenital muscular dystrophies.

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Year:  2006        PMID: 17097859     DOI: 10.1016/j.bbadis.2006.09.006

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN: 0006-3002


  23 in total

Review 1.  Congenital muscular dystrophies: toward molecular therapeutic interventions.

Authors:  James Collins; Carsten G Bönnemann
Journal:  Curr Neurol Neurosci Rep       Date:  2010-03       Impact factor: 5.081

2.  Primary cellular meningeal defects cause neocortical dysplasia and dyslamination.

Authors:  Jonathan H Hecht; Julie A Siegenthaler; Katelin P Patterson; Samuel J Pleasure
Journal:  Ann Neurol       Date:  2010-10       Impact factor: 10.422

Review 3.  Laminin isoforms in development and disease.

Authors:  Susanne Schéele; Alexander Nyström; Madeleine Durbeej; Jan F Talts; Marja Ekblom; Peter Ekblom
Journal:  J Mol Med (Berl)       Date:  2007-04-11       Impact factor: 4.599

4.  LARGE, an intellectual disability-associated protein, regulates AMPA-type glutamate receptor trafficking and memory.

Authors:  Bo Am Seo; Taesup Cho; Daniel Z Lee; Joong-Jae Lee; Boyoung Lee; Seong-Wook Kim; Hee-Sup Shin; Myoung-Goo Kang
Journal:  Proc Natl Acad Sci U S A       Date:  2018-06-18       Impact factor: 11.205

Review 5.  Cerebral malformations without antenatal diagnosis.

Authors:  Nadine J Girard
Journal:  Pediatr Radiol       Date:  2010-04-30

6.  Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization.

Authors:  Motoi Kanagawa; Yoshihiro Omori; Shigeru Sato; Kazuhiro Kobayashi; Yuko Miyagoe-Suzuki; Shin'ichi Takeda; Tamao Endo; Takahisa Furukawa; Tatsushi Toda
Journal:  J Biol Chem       Date:  2010-08-03       Impact factor: 5.157

7.  Adherence and barriers to hyperinsufflation in children with congenital muscular dystrophy.

Authors:  John E Pascoe; Hemant Sawnani; Oscar H Mayer; Keith McConnell; Joseph M McDonough; Cynthia White; Anne M Rutkowski; Raouf S Amin; Avani C Modi
Journal:  Pediatr Pulmonol       Date:  2016-11-22

8.  Glycomic analyses of mouse models of congenital muscular dystrophy.

Authors:  Stephanie H Stalnaker; Kazuhiro Aoki; Jae-Min Lim; Mindy Porterfield; Mian Liu; Jakob S Satz; Sean Buskirk; Yufang Xiong; Peng Zhang; Kevin P Campbell; Huaiyu Hu; David Live; Michael Tiemeyer; Lance Wells
Journal:  J Biol Chem       Date:  2011-04-01       Impact factor: 5.157

9.  Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.

Authors:  Katherine G Meilleur; Minal S Jain; Linda S Hynan; Ching-Yi Shieh; Eunice Kim; Melissa Waite; Michelle McGuire; Courtney Fiorini; Allan M Glanzman; Marion Main; Kristy Rose; Tina Duong; Roxanna Bendixen; Melody M Linton; Irene C Arveson; Carmel Nichols; Kelly Yang; Kenneth H Fischbeck; Kathryn R Wagner; Kathryn North; Ami Mankodi; Christopher Grunseich; Elizabeth J Hartnett; Michaele Smith; Sandra Donkervoort; Alice Schindler; Angela Kokkinis; Meganne Leach; A Reghan Foley; James Collins; Francesco Muntoni; Anne Rutkowski; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2014-09-28       Impact factor: 4.296

10.  Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

Authors:  Minal S Jain; Katherine Meilleur; Eunhee Kim; Gina Norato; Melissa Waite; Leslie Nelson; Michelle McGuire; Tina Duong; Katherine Keller; Donovan J Lott; Allan Glanzman; Kristy Rose; Marion Main; Courtney Fiorini; Irene Chrismer; Melody Linton; Monal Punjabi; Jeffrey Elliott; Fatoumata Tounkara; Ruhi Vasavada; Ranjani Logaraj; Jocelyn Winkert; Sandra Donkervoort; Meganne Leach; Jahannaz Dastgir; Linda Hynan; Carmel Nichols; Elizabeth Hartnett; Gilberto M Averion; James C Collins; Eunice S Kim; Angela Kokkinis; Alice Schindler; Kristen Zukosky; Robert Fee; Veronica Hinton; Payam Mohassel; Diana Bharucha-Goebel; Carole Vuillerot; Peter McGraw; Mark Barton; Joseph Fontana; Anne Rutkowski; A Reghan Foley; Carsten G Bönnemann
Journal:  Neurology       Date:  2019-10-25       Impact factor: 9.910

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